When is rare disease not so rare?

In this conversation, Susanna Smith shares her personal experience with CADASIL. The discussion explores the evolving definitions of rare diseases, the importance of accurate classification, and the implications for research and treatment. We cover how insights from rare diseases can inform our understanding of more common conditions. Susanna discusses the complexities of living as a 'previvor'—someone at risk for genetic conditions without symptoms. She explores the emotional and practical implications of genetic testing, the challenges of navigating healthcare and insurance, and the importance of patient advocacy. Susanna also shares insights from her podcast, 'Genetic Frontiers,' which delves into the multifaceted impact of genetic information on society.

Key Takeaways

• CADASIL is an inherited genetic condition that is autosomal dominant, meaning if someone has CADASIL there is a 50% chance their child will have the condition
• Recent studies suggest CADASIL may be much more prevalent than previously thought.
• The classification of diseases as rare may not reflect their actual prevalence.
• Genomic studies can reveal underdiagnosed conditions like CADASIL
• Research on rare diseases can provide insights into common conditions.
• Healthcare for pre-vivors varies significantly based on the condition.
• Genetic discrimination remains a significant concern and protections for insurance are limited
• Finding a provider who listens and collaborates is vital.

Susanna J. Smith, MPH, is the founder & host of Genetic Frontiers, a podcast about the promise, power, and perils of genetic information. As a journalist and researcher, she writes about the future of medicine, genetics, and technology in healthcare. She is also a previvor of a rare, genetic disease and working on a book project about negotiating the healthcare system as a previvor. Connect with her at geneticfrontiers.org or on LinkedIn @GeneticFrontiers.

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Here are more resources related to today’s topic:

• What is CADASIL? https://www.ninds.nih.gov/health-information/disorders/cadasil
• NORD
• Genetic Alliance
• Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial
• Psychological impact of genetic testing for Huntington’s disease: an update of the literature

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Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health.

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